• Patrik Palacka, Jan Slopovsky, Marek Makovnik, Karol Kajo, Jana Obertova, and Michal Mego.
• 2 Department of Oncology, Faculty of Medicine, Comenius University, Bratislava, Slovakia.
• Medicine (Baltimore). 2022 Jan 21; 101 (3): e28613e28613.

RationalePrimary diffuse leptomeningeal melanomatosis (PDLM) is a rare disease that affects melanocytes in the leptomeninges. There is very limited data on the efficacy of immunotherapy in this setting.Patient ConcernsA patient (23 years old) was diagnosed with PDLM. Histologically, atypical melanocytic cells were also observed.DiagnosisImmunohistochemistry showed positivity for S100 protein, NKiC3, and vimentin, and negativity for Melan-A and HMB-45, with a proliferation index of 30%. Extracranial disease was excluded using dermatological and other examinations, including positron emission tomography/computed tomography with 18F-fluorodeoxyglucose.InterventionsThe patient was treated with whole-brain radiotherapy (10 fractions to a total dose of 30 Gy) concomitantly with pembrolizumab and then continued with immunotherapy until disease progression with a maximum effect of partial remission on magnetic resonance imaging scans.OutcomesProgression-free survival was 6.0 months and overall survival 6.5 months.LessonsThis is one of the few case reports of an adult patient with this rare malignancy being treated with a programmed death-1 inhibitor with partial response. Immunotherapy in metastatic PDLM may be a reasonable therapeutic option.Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.

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